D22Y (p.Asp22Tyr) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D22Y (p.Asp22Tyr) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D22Y (p.Asp22Tyr) variant details
- p.Asp22Tyr
- rs876660420
- ClinGen CA377782011
- ClinVar RCV000550017
- ClinVar RCV003226941
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.96
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PTEN VAMP-seq Combined: score 0.901
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)